Wolman Disease is a very uncommon metabolic disease caused from the deficiency of an enzyme. The diagnosis of this disease is most likely to be in the first weeks of life. The enzyme that is supposed to be used during this process is meant to break down lipids inside the cells. When this is not performed properly, it makes it nearly impossible to gain weight and be healthy. Wolman Disease is also classified as a Lysosomal Storage Disorder.
What Does It Do?
Every human being is born with two copies of the LAL gene. One comes from your mother, and one from the father. Wolman's Disease occurs when there is a mutation in both of the LAL genes. Wolman Disease is very rare. Studies show there is about eight babies every year born with Wolman Disease. The only problem is, many cases can go undiagnosed or misdiagnosed. There is not much information regarding this disease, because of the rarity. The most common people to have Wolman's Disease are Iranians, and Jewish people.
Other Names for Wolman Disease
Acid lipase deficiency
Familial Xanthomatosis
LAL deficiency
LIPA deficiency
Liposomal Acid Lipase Deficiency, Wolman Type
Lysosomal acid lipase deficiency
Symptoms
Enlarged liver
poor weight gain
low muscle tone
vomiting
diarrhea
poor absorption of nutrients
Photos of Wolman Disease
Wolman's Disease in the Liver. Shows the mutations in the liver. The cells are starting to mutate.
Wolman Disease
Table of Contents
What is Wolman Disease?
Wolman Disease is a very uncommon metabolic disease caused from the deficiency of an enzyme. The diagnosis of this disease is most likely to be in the first weeks of life. The enzyme that is supposed to be used during this process is meant to break down lipids inside the cells. When this is not performed properly, it makes it nearly impossible to gain weight and be healthy. Wolman Disease is also classified as a Lysosomal Storage Disorder.
What Does It Do?
Every human being is born with two copies of the LAL gene. One comes from your mother, and one from the father. Wolman's Disease occurs when there is a mutation in both of the LAL genes. Wolman Disease is very rare. Studies show there is about eight babies every year born with Wolman Disease. The only problem is, many cases can go undiagnosed or misdiagnosed. There is not much information regarding this disease, because of the rarity. The most common people to have Wolman's Disease are Iranians, and Jewish people.
Other Names for Wolman Disease
Symptoms
Photos of Wolman Disease
Citations:
http://en.wikipedia.org/wiki/Wolman_disease
http://ghr.nlm.nih.gov/condition/wolman-disease
http://rarediseases.about.com/od/lysosomalstoragediseases/a/wolman.htm
http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1961
http://trialx.com/curebyte/2011/07/08/photos-related-to-wolman-disease/
http://www.humpath.com/spip.php?article4566&id_document=11023
http://www.youtube.com/watch?v=iMpH3eMz-AY